Variant report

Variant	rs12126307
Chromosome Location	chr1:63212247-63212248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62856753..62857715-chr1:63211965..63212845,4	K562	blood:
2	chr1:62641022..62641912-chr1:63211839..63212852,4	K562	blood:
3	chr1:62973586..62974447-chr1:63211951..63212865,4	K562	blood:
4	chr1:62995787..62996894-chr1:63211823..63212931,5	K562	blood:
5	chr1:62996306..62996824-chr1:63211908..63212616,2	MCF-7	breast:
6	chr1:62996236..62997976-chr1:63209600..63212359,2	K562	blood:

Variant related genes	Relation type
ENSG00000270549	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10493328	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10493329	0.85[EUR][1000 genomes]
rs10789127	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10789128	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10889367	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889377	0.88[EUR][1000 genomes]
rs10889378	0.88[EUR][1000 genomes]
rs10889379	0.85[EUR][1000 genomes]
rs10889380	0.85[EUR][1000 genomes]
rs10889381	0.83[EUR][1000 genomes]
rs11208011	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208012	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208014	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208015	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208017	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11208029	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11208030	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11208031	0.85[EUR][1000 genomes]
rs11208033	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11208034	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11208039	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11208041	0.81[EUR][1000 genomes]
rs11208042	0.81[EUR][1000 genomes]
rs11208048	0.83[AMR][1000 genomes]
rs12066524	0.83[AMR][1000 genomes]
rs12067646	0.86[EUR][1000 genomes]
rs12078873	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12080049	0.88[EUR][1000 genomes]
rs12083738	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12084633	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12085400	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12087034	0.82[AMR][1000 genomes]
rs12090494	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12096696	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12097658	0.82[AMR][1000 genomes]
rs12116959	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117272	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12121207	0.88[EUR][1000 genomes]
rs12122041	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125325	0.81[EUR][1000 genomes]
rs12129322	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12129355	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132170	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12132297	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133142	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12133507	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135672	0.80[AMR][1000 genomes]
rs12141183	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409274	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123817	0.88[EUR][1000 genomes]
rs17123830	0.88[EUR][1000 genomes]
rs17123896	0.81[EUR][1000 genomes]
rs17388170	0.91[EUR][1000 genomes]
rs1927484	0.85[EUR][1000 genomes]
rs1927485	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1927486	0.83[EUR][1000 genomes]
rs3737891	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4370785	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4409690	0.83[EUR][1000 genomes]
rs4457613	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55835075	0.83[EUR][1000 genomes]
rs55936326	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55954926	0.83[AMR][1000 genomes]
rs56280875	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56305462	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56329995	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57653096	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58583743	0.85[EUR][1000 genomes]
rs59317258	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60528349	0.87[EUR][1000 genomes]
rs61765879	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61765883	0.88[EUR][1000 genomes]
rs61775965	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587988	0.85[EUR][1000 genomes]
rs6657622	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658682	0.88[EUR][1000 genomes]
rs7416683	0.87[EUR][1000 genomes]
rs7513999	0.88[EUR][1000 genomes]
rs7533354	0.88[EUR][1000 genomes]
rs7546879	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs943696	0.83[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12126307	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63208800-63220400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:63210800-63215400	Weak transcription	Liver	Liver
3	chr1:63211000-63222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:63211800-63212400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:63211800-63212400	Active TSS	Hela-S3	cervix
6	chr1:63211800-63212400	Active TSS	Osteobl	bone
7	chr1:63212000-63212400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:63212000-63212400	Active TSS	Primary hematopoietic stem cells	blood
9	chr1:63212000-63212400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:63212000-63212400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:63212000-63212400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:63212000-63212400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:63212000-63212400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:63212000-63212400	Active TSS	Adipose Nuclei	Adipose
15	chr1:63212000-63212400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:63212000-63212400	Active TSS	HUVEC	blood vessel
17	chr1:63212000-63212400	Active TSS	NHDF-Ad	bronchial
18	chr1:63212000-63212400	Active TSS	NHLF	lung
19	chr1:63212000-63212600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:63212200-63212400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:63212200-63212400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:63212200-63212400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:63212200-63212400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:63212200-63212400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:63212200-63212400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:63212200-63212400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:63212200-63212400	Flanking Active TSS	Fetal Kidney	kidney
28	chr1:63212200-63212400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:63212200-63212400	Enhancers	Stomach Mucosa	stomach
30	chr1:63212200-63212400	Enhancers	NHEK	skin
31	chr1:63212200-63212600	Enhancers	Fetal Lung	lung
32	chr1:63212200-63217000	Weak transcription	Fetal Stomach	stomach

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